Canonical Allele Identifier: CA16618974
Community Standard Title: NM_001368882.1(COL13A1):c.1503dup (p.Gly502ArgfsTer14)
Gene: COL13A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69930060dup , CM000672.2:g.69930060dup GRCh38
NC_000010.10:g.71689816dup , CM000672.1:g.71689816dup GRCh37
NC_000010.9:g.71359822dup NCBI36
NG_046344.1:g.133173dup

Transcript Alleles

HGVS Amino-acid Change
NM_001368882.1:c.1503dup MANE Select NP_001355811.1:p.Gly502ArgfsTer14
ENST00000645393.2:c.1503dup MANE Select ENSP00000496051.1:p.Gly502ArgfsTer14
NM_001130103.1:c.1470dup NP_001123575.1:p.Gly491ArgfsTer14
NM_001130103.2:c.1470dup NP_001123575.1:p.Gly491ArgfsTer14
NM_001320951.1:c.1440dup NP_001307880.1:p.Gly481ArgfsTer14
NM_001320951.2:c.1440dup NP_001307880.1:p.Gly481ArgfsTer14
NM_001368883.1:c.1467dup NP_001355812.1:p.Gly490ArgfsTer14
NM_001368884.1:c.1440dup NP_001355813.1:p.Gly481ArgfsTer14
NM_001368885.1:c.1404dup NP_001355814.1:p.Gly469ArgfsTer14
NM_001368886.1:c.840dup NP_001355815.1:p.Gly281ArgfsTer14
NM_001368895.1:c.1413dup NP_001355824.1:p.Gly472ArgfsTer14
NM_001368896.1:c.1299dup NP_001355825.1:p.Gly434ArgfsTer14
NM_001368897.1:c.1326dup NP_001355826.1:p.Gly443ArgfsTer14
NM_001368898.1:c.1299dup NP_001355827.1:p.Gly434ArgfsTer14
NM_080798.3:c.1299dup NP_542988.3:p.Gly434ArgfsTer14
NM_080798.4:c.1299dup NP_542988.3:p.Gly434ArgfsTer14
NM_080800.3:c.1413dup NP_542990.3:p.Gly472ArgfsTer14
NM_080800.4:c.1413dup NP_542990.3:p.Gly472ArgfsTer14
NM_080801.3:c.1404dup NP_542991.3:p.Gly469ArgfsTer14
NM_080801.4:c.1404dup NP_542991.3:p.Gly469ArgfsTer14
NM_080802.3:c.1404dup NP_542992.3:p.Gly469ArgfsTer14
NM_080802.4:c.1404dup NP_542992.3:p.Gly469ArgfsTer14
NM_080805.3:c.1317dup NP_542995.3:p.Gly440ArgfsTer14
NM_080805.4:c.1317dup NP_542995.3:p.Gly440ArgfsTer14
ENST00000354547.7:c.1404dup ENSP00000346553.3:p.Gly469ArgfsTer14
ENST00000357811.7:c.1404dup ENSP00000350463.3:p.Gly469ArgfsTer14
ENST00000357811.8:c.1467dup ENSP00000350463.4:p.Gly490ArgfsTer14
ENST00000398969.7:c.1290dup ENSP00000381941.4:p.Gly431ArgfsTer14
ENST00000398969.8:c.1529dup ENSP00000381941.5:n.1529dup
ENST00000398975.6:c.104dup
ENST00000398978.7:c.1470dup ENSP00000381949.3:p.Gly491ArgfsTer14
ENST00000398978.8:c.1470dup ENSP00000381949.3:p.Gly491ArgfsTer14
ENST00000479733.5:c.1497dup ENSP00000430089.1:p.Gly500ArgfsTer14
ENST00000517713.5:c.1404dup ENSP00000430061.1:p.Gly469ArgfsTer14
ENST00000520133.5:c.1317dup ENSP00000430173.1:p.Gly440ArgfsTer14
ENST00000520267.5:c.1299dup ENSP00000428057.1:p.Gly434ArgfsTer14
ENST00000522165.5:c.1413dup ENSP00000428342.1:p.Gly472ArgfsTer14
ENST00000673628.1:c.1295dup
ENST00000673628.2:c.1404dup ENSP00000501050.2:p.Gly469ArgfsTer14
ENST00000673641.1:c.1220dup
ENST00000673641.2:c.1404dup ENSP00000501125.2:p.Gly469ArgfsTer14
ENST00000673802.1:c.1142dup
ENST00000673802.2:c.1326dup ENSP00000501147.2:p.Gly443ArgfsTer?
ENST00000673842.1:c.1416dup ENSP00000501058.1:p.Gly473ArgfsTer14
ENST00000673850.1:c.413dup
ENST00000673914.1:c.1316dup
ENST00000673914.2:c.1399dup ENSP00000501202.2:n.1399dup
ENST00000673931.1:c.422dup
ENST00000673957.1:c.1230dup
ENST00000673957.2:c.1441dup ENSP00000500966.2:n.1441dup
ENST00000674008.1:c.1493dup
ENST00000674008.2:c.1530dup ENSP00000501091.2:n.1530dup
ENST00000674040.1:c.1410dup
ENST00000674040.2:c.1493dup ENSP00000501131.2:n.1493dup
ENST00000674050.1:c.781dup
ENST00000674121.1:c.1299dup ENSP00000501084.1:p.Gly434ArgfsTer14
ENST00000674124.1:c.855dup ENSP00000501072.1:p.Gly286ArgfsTer14
ENST00000674124.2:c.1157dup ENSP00000501072.2:n.1157dup
ENST00000682048.1:n.690dup
ENST00000682251.1:n.127dup
ENST00000682511.1:n.413dup
ENST00000682679.1:c.1529dup ENSP00000507571.1:n.1529dup
ENST00000682702.1:n.18dup
ENST00000682817.1:n.173dup
ENST00000683194.1:n.927dup
ENST00000683633.1:n.855dup
ENST00000683667.1:n.927dup
ENST00000683952.1:n.218dup
ENST00000683993.1:n.690dup
ENST00000684309.1:n.927dup
ENST00000684323.1:n.312dup
ENST00000684376.1:n.413dup
ENST00000684387.1:n.1121dup
XM_011539292.1:c.1503dup XP_011537594.1:p.Gly502ArgfsTer14
XM_011539292.3:c.1503dup XP_011537594.1:p.Gly502ArgfsTer14
XM_011539293.1:c.1503dup XP_011537595.1:p.Gly502ArgfsTer14
XM_011539293.3:c.1503dup XP_011537595.1:p.Gly502ArgfsTer14
XM_011539294.1:c.1440dup XP_011537596.1:p.Gly481ArgfsTer14
XM_011539294.3:c.1440dup XP_011537596.1:p.Gly481ArgfsTer14
XM_011539295.1:c.1503dup XP_011537597.1:p.Gly502ArgfsTer14
XM_011539295.3:c.1503dup XP_011537597.1:p.Gly502ArgfsTer14
XM_017015676.2:c.1503dup XP_016871165.1:p.Gly502ArgfsTer14
XM_017015677.2:c.1503dup XP_016871166.1:p.Gly502ArgfsTer14
XM_017015679.2:c.1503dup XP_016871168.1:p.Gly502ArgfsTer14
XM_017015680.2:c.1503dup XP_016871169.1:p.Gly502ArgfsTer14
XM_017015681.2:c.1440dup XP_016871170.1:p.Gly481ArgfsTer14
XM_017015682.2:c.1503dup XP_016871171.1:p.Gly502ArgfsTer14
XM_017015683.2:c.1467dup XP_016871172.1:p.Gly490ArgfsTer14
XM_017015684.2:c.1404dup XP_016871173.1:p.Gly469ArgfsTer14
XM_017015685.2:c.1440dup XP_016871174.1:p.Gly481ArgfsTer14
XM_017015686.2:c.1440dup XP_016871175.1:p.Gly481ArgfsTer14
XM_017015687.2:c.1503dup XP_016871176.1:p.Gly502ArgfsTer14
XM_017015688.2:c.1440dup XP_016871177.1:p.Gly481ArgfsTer14
XM_017015689.2:c.1440dup XP_016871178.1:p.Gly481ArgfsTer14
XM_017015690.2:c.1413dup XP_016871179.1:p.Gly472ArgfsTer14
XM_017015691.2:c.1440dup XP_016871180.1:p.Gly481ArgfsTer14
XM_017015692.2:c.1404dup XP_016871181.1:p.Gly469ArgfsTer14
XM_017015693.2:c.1440dup XP_016871182.1:p.Gly481ArgfsTer14
XM_017015694.2:c.1299dup XP_016871183.1:p.Gly434ArgfsTer14
XM_017015695.2:c.1299dup XP_016871184.1:p.Gly434ArgfsTer14
XM_017015697.2:c.840dup XP_016871186.1:p.Gly281ArgfsTer14
XM_024447815.1:c.1503dup XP_024303583.1:p.Gly502ArgfsTer14
XM_024447816.1:c.1317dup XP_024303584.1:p.Gly440ArgfsTer14
XM_024447817.1:c.1326dup XP_024303585.1:p.Gly443ArgfsTer14
XM_024447818.1:c.1299dup XP_024303586.1:p.Gly434ArgfsTer14
XR_001747024.2:n.2066dup